MRXST
MCID: MNT058
MIFTS: 37

Mental Retardation, X-Linked, Syndromic, Turner Type (MRXST)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Mental Retardation, X-Linked, Syndromic, Turner Type

MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic, Turner Type:

Name: Mental Retardation, X-Linked, Syndromic, Turner Type 57 74 29 6 72
Juberg-Marsidi Syndrome 57 75 53 55
Mental Retardation, X-Linked Syndromic, Turner Type 57 40
Mental Retardation and Macrocephaly Syndrome 57 74
Mrxst 57 74
Jms 57 53
Intellectual Disability, X-Linked, with Growth Retardation, Deafness, and Microgenitalism 53
Mental Retardation, X-Linked, with Growth Retardation, Deafness, and Microgenitalism 57
Mental Retardation, X-Linked, Syndromic, Brooks-Wisniewski-Brown Type; Mrxsbwb 57
Intellectual Disability, X-Linked with Growth Delay, Deafness, Microgenitalism 53
Mental Retardation, X-Linked, Syndromic, Brooks-Wisniewski-Brown Type 57
X-Linked Intellectual Disability-Hypotonic Facies Syndrome 1 53
X-Linked Hypogonadism Gynecomastia Intellectual Disability 53
Juberg-Marsidi Intellectual Disability Syndrome 53
X-Linked Mental Retardation Brooks Type 53
Brooks-Wisniewski-Brown Syndrome 57
Brooks Wisniewski Brown Syndrome 53
Juberg-Marsidi Syndrome; Jms 57
Smith-Fineman-Myers Syndrome 53
Juberg Marsidi Syndrome 53
Mrxs-Turner 74
Mrxsbwb 57

Characteristics:

OMIM:

57
Miscellaneous:
onset in infancy
highly variable phenotype
some carrier females are unaffected
some females with de novo mutations are severely affected

Inheritance:
x-linked


Classifications:



External Ids:

MeSH 44 D038901
MedGen 42 C2678046
UMLS 72 C2678046

Summaries for Mental Retardation, X-Linked, Syndromic, Turner Type

OMIM : 57 Turner-type X-linked syndromic mental retardation (MRXST) is a neurodevelopmental disorder with a highly variable phenotype. Some affected families show X-linked recessive inheritance, with only males being affected and carrier females having no abnormal findings. In other affected families, males are severely affected, and female mutation carriers show milder cognitive abnormalities or dysmorphic features. In addition, there are female patients with de novo mutations who show the full phenotype, despite skewed X-chromosome inactivation. Affected individuals show global developmental delay from infancy, with variably impaired intellectual development and poor or absent speech, often with delayed walking. Dysmorphic features are common and can include macrocephaly, microcephaly, deep-set eyes, hypotelorism, small palpebral fissures, dysplastic, large, or low-set ears, long face, bitemporal narrowing, high-arched palate, thin upper lip, and scoliosis or mild distal skeletal anomalies, such as brachydactyly or tapered fingers. Males tend to have cryptorchidism. Other features, such as hypotonia, seizures, and delayed bone age, are more variable (summary by Moortgat et al., 2018). (309590)

MalaCards based summary : Mental Retardation, X-Linked, Syndromic, Turner Type, also known as juberg-marsidi syndrome, is related to syndromic x-linked intellectual disability turner type and mental retardation smith fineman myers type. An important gene associated with Mental Retardation, X-Linked, Syndromic, Turner Type is HUWE1 (HECT, UBA And WWE Domain Containing E3 Ubiquitin Protein Ligase 1). Affiliated tissues include eye and bone, and related phenotype is Increased cell death HMECs cells.

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3056DefinitionX-linked intellectual disability, Brooks type is a rare X-linked intellectual disability syndrome characterized by failure to thrive, speech delay, intellectual disability, muscle hypotonia, spastic diplegia, optic atrophy with myopia, and distinct facial features (including triangular face, bifrontal narrowness, deeply set eyes, low-set/cupped ears, prominent nose, short philtrum, and thin upper lip with tented morphology) that can be evident from birth. Additional manifestations reported in some patients include large joint contractures and pectus excavatum (which become more evident with age) and seizures.Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : 74 Mental retardation, X-linked, syndromic, Turner type: A syndrome characterized by the association of mental retardation with macrocephaly and variable contractures.

Wikipedia : 75 Smith-Fineman-Myers syndrome (SFMS1) is a congenital disorder that causes birth defects. This syndrome... more...

Related Diseases for Mental Retardation, X-Linked, Syndromic, Turner Type

Diseases related to Mental Retardation, X-Linked, Syndromic, Turner Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 106)
# Related Disease Score Top Affiliating Genes
1 syndromic x-linked intellectual disability turner type 11.8
2 mental retardation smith fineman myers type 11.6
3 johnson neuroectodermal syndrome 11.4
4 mental retardation-hypotonic facies syndrome, x-linked, 1 11.2
5 mental retardation, x-linked, syndromic, cabezas type 10.8
6 hypotonia 10.6
7 brown syndrome 10.6
8 spastic diplegia 10.6
9 cleft palate, isolated 10.5
10 hypertonia 10.5
11 3-methylglutaconic aciduria, type iii 10.4
12 alcohol-related neurodevelopmental disorder 10.4
13 myopia 10.4
14 entropion 10.4
15 microcephaly 10.4
16 mitochondrial disorders 10.4
17 encephalopathy 10.4
18 cryptorchidism, unilateral or bilateral 10.4
19 pseudovaginal perineoscrotal hypospadias 10.4
20 branchiootic syndrome 1 10.4
21 alpha-thalassemia 10.4
22 thalassemia 10.4
23 alacrima, achalasia, and mental retardation syndrome 10.3
24 infant gynecomastia 10.3
25 gynecomastia 10.3
26 hydrocephalus 10.3
27 congenital hydrocephalus 10.3
28 lymphocytic leukemia 10.3
29 back pain 10.2
30 bladder cancer 10.1
31 ovarian cancer 10.1
32 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.1
33 body mass index quantitative trait locus 1 10.1
34 allergic hypersensitivity disease 10.1
35 neutropenia 10.1
36 hypogonadism 10.1
37 neonatal jaundice 10.1
38 hypogonadotropism 10.1
39 48,xyyy 10.1
40 chronic pain 10.1
41 breast cancer 9.9
42 colorectal cancer 9.9
43 renal cell carcinoma, nonpapillary 9.9
44 ocular dominance 9.9
45 sarcoidosis 1 9.9
46 triiodothyronine receptor auxiliary protein 9.9
47 vesicoureteral reflux 1 9.9
48 lung cancer 9.9
49 lymphoma, hodgkin, classic 9.9
50 hydrocephalus, congenital, 1 9.9

Graphical network of the top 20 diseases related to Mental Retardation, X-Linked, Syndromic, Turner Type:



Diseases related to Mental Retardation, X-Linked, Syndromic, Turner Type

Symptoms & Phenotypes for Mental Retardation, X-Linked, Syndromic, Turner Type

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly
microcephaly

Chest External Features:
pectus excavatum

Head And Neck Eyes:
ptosis
nystagmus
optic atrophy
strabismus
myopia
more
Skeletal Spine:
scoliosis

Growth Height:
short stature

Head And Neck Face:
long philtrum
micrognathia
short philtrum
long face
high forehead
more
Genitourinary External Genitalia Male:
cryptorchidism
hypospadias
small penis
undeveloped scrotum

Growth Other:
small for gestational age
generalized severe growth retardation

Head And Neck Mouth:
thin upper lip
high-arched palate
small mouth
large mouth

Skeletal:
delayed bone age
joint contractures

Growth Weight:
decreased weight for age

Head And Neck Ears:
low-set ears
posteriorly rotated ears
protruding ears
cupped ears
hearing impairment (in some patients)

Skeletal Hands:
clinodactyly
brachydactyly
camptodactyly
small hands
tapering fingers
more
Neurologic Central Nervous System:
hyperreflexia
global developmental delay
absent speech
poor coordination
cerebral atrophy
more
Head And Neck Nose:
depressed nasal bridge
bulbous nose

Skeletal Skull:
brachycephaly
trigonocephaly
craniosynostosis (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
autistic features

Skin Nails Hair Hair:
low posterior hairline
hyperpilosity

Head And Neck Teeth:
oligodontia
malposition of the teeth

Muscle Soft Tissue:
hypotonia
muscle atrophy

Skeletal Feet:
overlapping toes
foot deformities
small feet
elongated hallux

Clinical features from OMIM:

309590

GenomeRNAi Phenotypes related to Mental Retardation, X-Linked, Syndromic, Turner Type according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death HMECs cells GR00103-A-0 8.62 ATRX HUWE1

Drugs & Therapeutics for Mental Retardation, X-Linked, Syndromic, Turner Type

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, Syndromic, Turner Type

Genetic Tests for Mental Retardation, X-Linked, Syndromic, Turner Type

Genetic tests related to Mental Retardation, X-Linked, Syndromic, Turner Type:

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked, Syndromic, Turner Type 29 HUWE1

Anatomical Context for Mental Retardation, X-Linked, Syndromic, Turner Type

MalaCards organs/tissues related to Mental Retardation, X-Linked, Syndromic, Turner Type:

41
Eye, Bone

Publications for Mental Retardation, X-Linked, Syndromic, Turner Type

Articles related to Mental Retardation, X-Linked, Syndromic, Turner Type:

(show all 25)
# Title Authors PMID Year
1
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study. 38 8 71
27130160 2016
2
Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer syndrome. 8 71
30797980 2019
3
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. 8 71
29180823 2018
4
Diagnostic value of exome and whole genome sequencing in craniosynostosis. 8 71
27884935 2017
5
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. 8 71
25985138 2015
6
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. 8 71
18252223 2008
7
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. 8 71
16700052 2006
8
X-linked mental retardation with heterozygous expression and macrocephaly: pericentromeric gene localization. 8 71
7943042 1994
9
New X-linked mental retardation (XLMR) syndrome with distinct facial appearance and growth retardation. 8 71
7943044 1994
10
A new form of X-linked mental retardation with growth retardation, deafness, and microgenitalism. 8 71
6107045 1980
11
Juberg-Marsidi syndrome: report of an additional case. 38 8
8533845 1995
12
Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability. 71
29118367 2017
13
Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability. 8
27615324 2017
14
Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome. 8
16477654 2006
15
A family with mental retardation, variable macrocephaly and macro-orchidism, and linkage to Xq12-q21. 8
9863601 1998
16
X-linked mental retardation syndrome: three brothers with the Brooks-Wisniewski-Brown syndrome. 8
8826449 1996
17
An X-linked syndrome with microcephaly, severe mental retardation, spasticity, epilepsy and deafness. 8
7077653 1982
18
Molecular-clinical spectrum of the ATR-X syndrome. 9 38
11449489 2000
19
XNP mutation in a large family with Juberg-Marsidi syndrome. 9 38
8630485 1996
20
Lethal X-linked microcephaly with dysmorphic features, bilateral optic pathway aplasia and normal eyes. 38
11603816 2001
21
Helicases and aging. 38
10892338 2000
22
Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase. 38
9244431 1997
23
Construction of a YAC contig spanning the Xq13.3 subband. 38
7782069 1995
24
Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome? 38
7726226 1995
25
The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21). 38
8503439 1993

Variations for Mental Retardation, X-Linked, Syndromic, Turner Type

ClinVar genetic disease variations for Mental Retardation, X-Linked, Syndromic, Turner Type:

6 (show all 31)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HUWE1 NM_031407.7(HUWE1): c.12928G> C (p.Gly4310Arg) single nucleotide variant Pathogenic rs1556909287 X:53561062-53561062 X:53534101-53534101
2 HUWE1 NM_031407.7(HUWE1): c.329G> A (p.Arg110Gln) single nucleotide variant Pathogenic rs1557036768 X:53674333-53674333 X:53647390-53647390
3 HUWE1 NM_031407.7(HUWE1): c.12037C> T (p.Arg4013Trp) single nucleotide variant Pathogenic rs121918525 X:53564617-53564617 X:53537656-53537656
4 HUWE1 NM_031407.7(HUWE1): c.567+1G> C single nucleotide variant Pathogenic rs1557024919 X:53661187-53661187 X:53634235-53634235
5 HUWE1 NM_031407.7(HUWE1): c.12188G> A (p.Arg4063Gln) single nucleotide variant Pathogenic X:53563578-53563578 X:53536617-53536617
6 HUWE1 NM_031407.7(HUWE1): c.9208C> T (p.Arg3070Cys) single nucleotide variant Pathogenic/Likely pathogenic rs886041876 X:53578039-53578039 X:53551078-53551078
7 HUWE1 NM_031407.7(HUWE1): c.145-2A> G single nucleotide variant Likely pathogenic X:53674519-53674519 X:53647576-53647576
8 HUWE1 NM_031407.7(HUWE1): c.344C> T (p.Ser115Phe) single nucleotide variant Likely pathogenic rs1557036757 X:53674318-53674318 X:53647375-53647375
9 HUWE1 NM_031407.7(HUWE1): c.8942G> A (p.Arg2981His) single nucleotide variant Likely pathogenic rs121918526 X:53578381-53578381 X:53551420-53551420
10 HUWE1 NM_031407.7(HUWE1): c.12559C> T (p.Arg4187Cys) single nucleotide variant Likely pathogenic rs121918527 X:53562435-53562435 X:53535474-53535474
11 HUWE1 NM_031407.7(HUWE1): c.4013C> T (p.Ala1338Val) single nucleotide variant Likely pathogenic rs863224879 X:53618042-53618042 X:53591082-53591082
12 HUWE1 NM_031407.7(HUWE1): c.3239G> A (p.Arg1080His) single nucleotide variant Likely pathogenic rs1057518704 X:53622288-53622288 X:53595328-53595328
13 HUWE1 NM_031407.7(HUWE1): c.9581T> C (p.Phe3194Ser) single nucleotide variant Likely pathogenic rs782393002 X:53576374-53576374 X:53549413-53549413
14 HUWE1 NM_031407.7(HUWE1): c.6267T> G (p.Ile2089Met) single nucleotide variant Likely pathogenic rs1556955128 X:53600755-53600755 X:53573795-53573795
15 HUWE1 NM_031407.7(HUWE1): c.3982A> G (p.Met1328Val) single nucleotide variant Likely pathogenic rs1556978515 X:53618073-53618073 X:53591113-53591113
16 HUWE1 NM_031407.7(HUWE1): c.2007T> G (p.His669Gln) single nucleotide variant Likely pathogenic rs1557006873 X:53642747-53642747 X:53615786-53615786
17 HUWE1 NM_031407.7(HUWE1): c.1978G> A (p.Gly660Arg) single nucleotide variant Likely pathogenic rs1557006903 X:53642776-53642776 X:53615815-53615815
18 HUWE1 NM_031407.7(HUWE1): c.12885G> C (p.Lys4295Asn) single nucleotide variant Likely pathogenic rs1325394060 X:53561105-53561105 X:53534144-53534144
19 HUWE1 NM_031407.7(HUWE1): c.12732G> C (p.Glu4244Asp) single nucleotide variant Likely pathogenic rs1556910184 X:53561576-53561576 X:53534615-53534615
20 HUWE1 NM_031407.7(HUWE1): c.12469C> G (p.Leu4157Val) single nucleotide variant Likely pathogenic rs1556912828 X:53563170-53563170 X:53536209-53536209
21 HUWE1 NM_031407.7(HUWE1): c.12317A> G (p.Tyr4106Cys) single nucleotide variant Likely pathogenic rs1556913180 X:53563449-53563449 X:53536488-53536488
22 HUWE1 NM_031407.7(HUWE1): c.12225C> G (p.Asn4075Lys) single nucleotide variant Likely pathogenic rs1556913258 X:53563541-53563541 X:53536580-53536580
23 HUWE1 NM_031407.7(HUWE1): c.12205A> T (p.Ile4069Phe) single nucleotide variant Likely pathogenic rs1556913268 X:53563561-53563561 X:53536600-53536600
24 HUWE1 NM_031407.7(HUWE1): c.12067C> T (p.Arg4023Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs1556914274 X:53564587-53564587 X:53537626-53537626
25 HUWE1 NM_031407.7(HUWE1): c.328C> T (p.Arg110Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs1057520538 X:53674334-53674334 X:53647391-53647391
26 HUWE1 NM_031407.7(HUWE1): c.12860C> T (p.Ser4287Phe) single nucleotide variant Uncertain significance rs143599552 X:53561130-53561130 X:53534169-53534169
27 HUWE1 NM_031407.7(HUWE1): c.4229C> T (p.Ala1410Val) single nucleotide variant Uncertain significance rs200500110 X:53616739-53616739 X:53589779-53589779
28 HUWE1 NM_031407.7(HUWE1): c.-24-2A> G single nucleotide variant Uncertain significance X:53681077-53681077 X:53654133-53654133
29 HUWE1 NM_031407.7(HUWE1): c.4639G> A (p.Val1547Met) single nucleotide variant Uncertain significance X:53613845-53613845 X:53586885-53586885
30 HUWE1 NM_031407.7(HUWE1): c.11701C> T (p.Arg3901Ter) single nucleotide variant Uncertain significance rs1085307073 X:53565973-53565973 X:53539012-53539012
31 HUWE1 NM_031407.7(HUWE1): c.4942A> T (p.Ser1648Cys) single nucleotide variant Benign rs201226547 X:53612031-53612031 X:53585071-53585071

Expression for Mental Retardation, X-Linked, Syndromic, Turner Type

Search GEO for disease gene expression data for Mental Retardation, X-Linked, Syndromic, Turner Type.

Pathways for Mental Retardation, X-Linked, Syndromic, Turner Type

GO Terms for Mental Retardation, X-Linked, Syndromic, Turner Type

Biological processes related to Mental Retardation, X-Linked, Syndromic, Turner Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 8.96 HUWE1 ATRX
2 DNA repair GO:0006281 8.62 HUWE1 ATRX

Sources for Mental Retardation, X-Linked, Syndromic, Turner Type

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17 EFO
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58 OMIM via Orphanet
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69 SNOMED-CT via HPO
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